Video-oculography assessment in neurodegenerative ataxias and Neimann Pick Type C
Objective: To assess the role of video-oculography (VOG) in the differential diagnosis of neurodegenerative ataxias and NP-C by evaluating saccadic velocity and smooth pursuit gain…The autonomic nervous system in Friedreich´s Ataxia: preliminary findings
Objective: To investigate the autonomic function in Friedreich´s ataxia (FRDA) Background: FRDA is a hereditary neurodegenerative disorder characterized by progressive gait ataxia, limb dysmetria, dysarthria…How do ataxias with oculomotor apraxia look and look like? A comparative controlled multimodal study of AT, AOA1 and AOA2 focusing on video-oculography.
Objective: To perform a multimodal comparison of AT, AOA1 and AOA2 focusing on video-oculography. Background: Autosomal recessive cerebellar ataxias (ARCAs) are heterogeneous disabling inherited neurodegenerative…Allelic CACNA1A disorders: a retrospective cohort analysis on clinical course and overlapping features
Objective: To (1) retrospectively study emerging clinical symptoms and disease course in a cohort of patients with genetically proven CACNA1A mutations and (2) to define…Spinocerebellar ataxia type-17: An Indian Scenario
Objective: We aimed to investigate status of SCA17 in Indian population and tried to minimise the category of unidentified cerebellar ataxia cases. Background: Spinocerebellar ataxia…Severity Assessment, Functional Capacity and Balance in Patients with Spinocerebellar Ataxias (SCAs): comparison between types 3 and 10.
Objective: To compare the differences in the evolution in terms of severity, functional independence and balance in patients with SCAs type 3 and 10 Background:…A case report: a primary progressive multiple sclerosis (PPMS) with adolescent-onset of progressive cerebellar ataxia
Objective: To report a 26 year-old female with progressive cerebellar ataxia for 12 years diagnosed to have primary progressive multiple sclerosis (PPMS). Background: Multiple sclerosis (MS) is a kind of CNS demyelinating disease. About 15% MS patients have a progressive course without a relapsing course. These patients are considered to have PPMS. It often presented a progressive neurological problem--such as lateralizing weakness, or numbness in the legs. Cerebellar ataxia as primary symptom is less frequent in PPMS and it's usually diagnosed in their 40-60 years at age. Here we present a case with adolescent-onset PPMS presenting progressive cerebellar ataxic syndrome. Methods: A 26 year-old female Taiwanese presented with 12 years of progressive ataxic gait. She denied relapses and remissions of symptoms. There were no mental decline, involuntary movements, muscle hypertrophy or abnormality in hearing or vision. She had no associated family history or consanguineous parents. Physical examination revealed dysarthria, dysmetria/intentional tremor and dysdiadochokinesia in four limbs and bilateral extensor plantar response. In addition, she had normal tendon reflexes, intact sensory function and negative Romberg test without parkinsonian features. Her gait was wide-based. Results: On investigation, CBC, lipid profile, LFT, chest X-ray, serum electrolytes, ECG, EEG and NCV showed normal results. VEP study were abnormal. The brain and cervical spine MRI showed no significant cerebellar atrophy or myelopathy. Instead, FLAIR-weighted imaging showed diffuse plaques in brainstem and cerebral white matters with a predilection for periventricular white matter with the major axes perpendicular to the ventricular surface (Dawson’s fingers). Besides, the CSF study revealed oligoclonal banding and elevation of IgG index. She had normal serum copper and ceruloplasmin levels and plasma very long-chain fatty acids (VLCFA) analysis. The genetic testing for spinocerebellar ataxia ( SCA1, 2, 3, 6, 7 and 17) is negative. In view of progressive ataxia with diffuse white matter lesions, a diagnosis of PPMS was made. Conclusions: PPMS can be a etiology in adolescent patient with progressive ataxic syndrome. Brain MRI is a better tool for detecting cerebral white matter lesions compared to CT in differential diagnosis of progressive ataxia. References:…Relationship between sensory augmentation and exercise routine in the improvement in balance and gait in a patient with lithium-induced ataxia
Objective: This case report describes the use of sensory augmentation and an exercise routine to improve balance and gait in a patient with lithium-induced ataxia.…Astasia, reach and grasp deficits following bilateral medio-dorsal pulvinar lesions
Objective: Analysis of the consequences of bilateral dorso-medial pulvinar lesions Background: Expansion of the dorsal pulvinar in humans and its anatomical connectivity suggests its involvement…Dr. Paula Coutinho’s Seminal Contributions to the Understanding of Machado-Joseph’s Disease
Objective: To recognize the contributions of Dr. Paula Coutinho to Neurology through her studies of Machado-Joseph’s disease (SCA3) Background: One of the unique opportunities in…
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